Vulto-Van Silfhout-De Vries Syndrome (VSVS)

Alias:
Vulto-Van Silfout-De Vries Syndrome
Intellectual Developmental Disorder with Impaired Expressive Speech and Behavioral Abnormalities, with or Without Seizures
Iddisbas
Mrd24
Vsvs
Mental Retardation, Autosomal Dominant 24
Autosomal Dominant Non-Syndromic Intellectual Disability 24
Mental Retardation, Autosomal Dominant, Type 24
Intellectual Disability, Autosomal Dominant 24
Autosomal Dominant Mental Retardation 24
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Vulto-Van Silfhout-De Vries Syndrome, also known as vulto-van silfout-de vries syndrome, is related to autism and fragile x syndrome. An important gene associated with Vulto-Van Silfhout-De Vries Syndrome is DEAF1 (DEAF1 Transcription Factor), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and gait disturbance
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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8
46
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Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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